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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Marfan syndrome
Summary
- Synonym
-
- Marfan's syndrome
- Definition
- A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
- Super Class
- aortic disease connective tissue disease eye disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4099 | MAG | myelin associated glycoprotein | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5161 | PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5236 | PGM1 | phosphoglucomutase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07837 | Amino acid transporter heavy chain SLC3A1 | |
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13563 | Polycystin-2 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q14118 | Dystroglycan 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q15392 | Delta(24)-sterol reductase | |
| Q15485 | Ficolin-2 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q5KSL6 | Diacylglycerol kinase kappa |
